Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	57703
Gene name	CWC22 spliceosome associated protein
Gene symbol	CWC22
Synonyms (NCBI Gene)	EIF4GLNCMfSAPb
Chromosome	2
Chromosome location	2q31.3

103

Show/Hide all (103)

miRTarBase ID	miRNA	Experiments	Reference
MIRT041798	hsa-miR-484	CLASH	23622248
MIRT039856	hsa-miR-615-3p	CLASH	23622248
MIRT037138	hsa-miR-877-3p	CLASH	23622248
MIRT917383	hsa-miR-1296	CLIP-seq
MIRT917384	hsa-miR-1305	CLIP-seq
MIRT917385	hsa-miR-188-5p	CLIP-seq
MIRT917386	hsa-miR-204	CLIP-seq
MIRT917387	hsa-miR-211	CLIP-seq
MIRT917388	hsa-miR-3115	CLIP-seq
MIRT917389	hsa-miR-3132	CLIP-seq
MIRT917390	hsa-miR-3671	CLIP-seq
MIRT917391	hsa-miR-4299	CLIP-seq
MIRT917392	hsa-miR-4456	CLIP-seq
MIRT917393	hsa-miR-4512	CLIP-seq
MIRT917394	hsa-miR-4775	CLIP-seq
MIRT917395	hsa-miR-548q	CLIP-seq
MIRT917396	hsa-miR-561	CLIP-seq
MIRT917397	hsa-miR-590-3p	CLIP-seq
MIRT917398	hsa-miR-607	CLIP-seq
MIRT2386595	hsa-miR-145	CLIP-seq
MIRT2386596	hsa-miR-198	CLIP-seq
MIRT917384	hsa-miR-1305	CLIP-seq
MIRT917386	hsa-miR-204	CLIP-seq
MIRT917387	hsa-miR-211	CLIP-seq
MIRT917390	hsa-miR-3671	CLIP-seq
MIRT917391	hsa-miR-4299	CLIP-seq
MIRT917392	hsa-miR-4456	CLIP-seq
MIRT917395	hsa-miR-548q	CLIP-seq
MIRT917396	hsa-miR-561	CLIP-seq
MIRT917398	hsa-miR-607	CLIP-seq
MIRT2510969	hsa-miR-1273f	CLIP-seq
MIRT917383	hsa-miR-1296	CLIP-seq
MIRT917384	hsa-miR-1305	CLIP-seq
MIRT2510970	hsa-miR-143	CLIP-seq
MIRT917385	hsa-miR-188-5p	CLIP-seq
MIRT917386	hsa-miR-204	CLIP-seq
MIRT917387	hsa-miR-211	CLIP-seq
MIRT917388	hsa-miR-3115	CLIP-seq
MIRT917389	hsa-miR-3132	CLIP-seq
MIRT2510971	hsa-miR-3163	CLIP-seq
MIRT2510972	hsa-miR-3171	CLIP-seq
MIRT2510973	hsa-miR-340	CLIP-seq
MIRT2510974	hsa-miR-3646	CLIP-seq
MIRT2510975	hsa-miR-3662	CLIP-seq
MIRT917390	hsa-miR-3671	CLIP-seq
MIRT2510976	hsa-miR-3973	CLIP-seq
MIRT2510977	hsa-miR-4275	CLIP-seq
MIRT917391	hsa-miR-4299	CLIP-seq
MIRT917392	hsa-miR-4456	CLIP-seq
MIRT917393	hsa-miR-4512	CLIP-seq
MIRT2510978	hsa-miR-4708-5p	CLIP-seq
MIRT2510979	hsa-miR-4770	CLIP-seq
MIRT917394	hsa-miR-4775	CLIP-seq
MIRT2510980	hsa-miR-513a-3p	CLIP-seq
MIRT2510981	hsa-miR-520g	CLIP-seq
MIRT2510982	hsa-miR-520h	CLIP-seq
MIRT2510983	hsa-miR-548a-5p	CLIP-seq
MIRT2510984	hsa-miR-548ab	CLIP-seq
MIRT2510985	hsa-miR-548ak	CLIP-seq
MIRT2510986	hsa-miR-548b-5p	CLIP-seq
MIRT2510987	hsa-miR-548c-5p	CLIP-seq
MIRT2510988	hsa-miR-548d-5p	CLIP-seq
MIRT2510989	hsa-miR-548h	CLIP-seq
MIRT2510990	hsa-miR-548i	CLIP-seq
MIRT2510991	hsa-miR-548j	CLIP-seq
MIRT917395	hsa-miR-548q	CLIP-seq
MIRT2510992	hsa-miR-548w	CLIP-seq
MIRT2510993	hsa-miR-548y	CLIP-seq
MIRT2510994	hsa-miR-559	CLIP-seq
MIRT917396	hsa-miR-561	CLIP-seq
MIRT2510995	hsa-miR-570	CLIP-seq
MIRT917397	hsa-miR-590-3p	CLIP-seq
MIRT917398	hsa-miR-607	CLIP-seq
MIRT2510969	hsa-miR-1273f	CLIP-seq
MIRT917383	hsa-miR-1296	CLIP-seq
MIRT917384	hsa-miR-1305	CLIP-seq
MIRT2510970	hsa-miR-143	CLIP-seq
MIRT917385	hsa-miR-188-5p	CLIP-seq
MIRT917386	hsa-miR-204	CLIP-seq
MIRT917387	hsa-miR-211	CLIP-seq
MIRT917388	hsa-miR-3115	CLIP-seq
MIRT917389	hsa-miR-3132	CLIP-seq
MIRT2510971	hsa-miR-3163	CLIP-seq
MIRT2510972	hsa-miR-3171	CLIP-seq
MIRT2510973	hsa-miR-340	CLIP-seq
MIRT2510974	hsa-miR-3646	CLIP-seq
MIRT2510975	hsa-miR-3662	CLIP-seq
MIRT917390	hsa-miR-3671	CLIP-seq
MIRT2510977	hsa-miR-4275	CLIP-seq
MIRT917391	hsa-miR-4299	CLIP-seq
MIRT917392	hsa-miR-4456	CLIP-seq
MIRT917393	hsa-miR-4512	CLIP-seq
MIRT2510978	hsa-miR-4708-5p	CLIP-seq
MIRT2510979	hsa-miR-4770	CLIP-seq
MIRT917394	hsa-miR-4775	CLIP-seq
MIRT2510980	hsa-miR-513a-3p	CLIP-seq
MIRT2678826	hsa-miR-520d-5p	CLIP-seq
MIRT2678827	hsa-miR-524-5p	CLIP-seq
MIRT917395	hsa-miR-548q	CLIP-seq
MIRT917396	hsa-miR-561	CLIP-seq
MIRT2510995	hsa-miR-570	CLIP-seq
MIRT917397	hsa-miR-590-3p	CLIP-seq
MIRT917398	hsa-miR-607	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	29360106
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IDA	11991638
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	22365833, 22961380, 23084401, 23236153, 29997244, 32296183
GO:0005634	Component	Nucleus	IDA	29360106
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IDA	11991638
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0016607	Component	Nuclear speck	IDA	22961380
GO:0016607	Component	Nuclear speck	IEA
GO:0048024	Process	Regulation of mRNA splicing, via spliceosome	IC	11991638
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	29360106
GO:0071006	Component	U2-type catalytic step 1 spliceosome	IDA	29301961
GO:0071007	Component	U2-type catalytic step 2 spliceosome	IDA	28076346
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638, 22961380

MIM	HGNC	e!Ensembl
615186	29322	ENSG00000163510

Q9HCG8

Protein name

Pre-mRNA-splicing factor CWC22 homolog (Nucampholin homolog) (fSAPb)

Protein function

Required for pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:12226669, PubMed:22961380, PubMed:28076346, PubMed:28502770, PubMed:29301961, PubMed:29360106). As a component of the minor spliceosome, involved in the spli

PDB

4C9B , 5MQF , 5XJC , 5YZG , 5Z56 , 5Z57 , 5Z58 , 6FF7 , 6ICZ , 6QDV , 6YVH , 6ZYM , 7A5P , 7DVQ , 7QTT , 7W59 , 7W5A , 7W5B , 8C6J , 8CH6 , 8I0R , 8I0S , 8I0T , 8I0U , 8I0V , 8I0W , 9FMD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02847	MA3	455 → 561	MA3 domain	Family

Sequence

MKSSVAQIKPSSGHDRRENLNSYQRNSSPEDRYEEQERSPRDRDYFDYSRSDYEHSRRGR
SYDSSMESRNRDREKRRERERDTDRKRSRKSPSPGRRNPETSVTQSSSAQDEPATKKKKD
ELDPLLTRTGGAYIPPAKLRMMQEQITDKNSLAYQRMSWEALKKSINGLINKVNISNISI
IIQELLQENIVRGRGLLSRSVLQAQSASPIFTHVYAALVAIINSKFPQIGELILKRLILN
FRKGYRRNDKQLCLTASKFVAHLINQNVAHEVLCLEMLTLLLERPTDDSVEVAIGFLKEC
GLKLTQVSPRGINAIFERLRNILHESEIDKRVQYMIEVMFAVRKDGFKDHPIILEGLDLV
EEDDQFTHMLPLEDDYNPEDVLNVFKMDPNFMENEEKYKAIKKEILDEGDTDSNTDQDAG
SSEEDEEEEEEEGEEDEEGQKVTIHDKTEINLVSFRRTIYLAIQSSLDFEECAHKLLKME
FPESQTKELCNMILDCCAQQRTYEKFFGLLAGRFCMLKKEYMESFEGIFKEQYDTIHRLE
TNKLRNVAKMFAHLLYTDSLPWSVLECIKLSEETTTSSSRIFVKIFFQELCEYMGLPKLN
ARLKDETLQPFFEGLLPRDNPRNTRFAINFFTSIGLGGLTDELREHLKNTPKVIVAQKPD
VEQNKSSPSSSSSASSSSESDSSDSDSDSSDSSSESSSEESDSSSISSHSSASANDVRKK
GHGKTRSKEVDKLIRNQQTNDRKQKERRQEHGHQETRTERERRSEKHRDQNSSGSNWRDP
ITKYTSDKDVPSERNNYSRVANDRDQEMHIDLENKHGDPKKKRGERRNSFSENEKHTHRI
KDSENFRRKDRSKSKEMNRKHSGSRSDEDRYQNGAERRWEKSSRYSEQSRESKKNQDRRR
EKSPAKQK

Sequence length

908

Interactions

View interactions

	Reactome
			mRNA Splicing - Major Pathway

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECTUM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE ADNEXA CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	35328793	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30396755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32345988	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31243111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25289862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	28250049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	28991256, 30285260		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CWC22 (CWC22 spliceosome associated protein)